EOGT[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 239

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 1247777	NM_001278689.2(EOGT):c.292_293del	EOGT	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1213680	NM_001278689.2(EOGT):c.*293del	EOGT	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1296435	NM_001278689.2(EOGT):c.*183A>G	EOGT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1483956	NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu)	EOGT (D441E +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 3089255	NM_001278689.2(EOGT):c.1555C>G (p.Pro519Ala)	EOGT (P435A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1984648	NM_001278689.2(EOGT):c.1534G>A (p.Val512Ile)	EOGT (V512I +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1953101	NM_001278689.2(EOGT):c.1531C>T (p.His511Tyr)	EOGT (H427Y +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 738090	NM_001278689.2(EOGT):c.1524T>C (p.Ala508=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 3049403	NM_001278689.2(EOGT):c.1498G>A (p.Glu500Lys)	EOGT (E416K +1 more)	Single nucleotide variant (missense variant +1 more)	EOGT-related disorder	GUncertain significance
Select item 747757	NM_001278689.2(EOGT):c.1491T>C (p.Asp497=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1510816	NM_001278689.2(EOGT):c.1488C>T (p.Phe496=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2162737	NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2391778	NM_001278689.2(EOGT):c.1466C>T (p.Pro489Leu)	EOGT (P405L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2060583	NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly)	EOGT (E403G +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 1977738	NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2799428	NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2083445	NM_001278689.2(EOGT):c.1446T>C (p.His482=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2062145	NM_001278689.2(EOGT):c.1443C>A (p.His481Gln)	EOGT (H397Q +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2166761	NM_001278689.2(EOGT):c.1442A>G (p.His481Arg)	EOGT (H481R +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 1898304	NM_001278689.2(EOGT):c.1440_1441delinsTT (p.His481Tyr)	EOGT (H397Y +1 more)	Indel (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1587633	NM_001278689.2(EOGT):c.1440C>T (p.Gly480=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 1190005	NM_001278689.2(EOGT):c.1437+178A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938433	NM_001278689.2(EOGT):c.1437+15C>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2724185	NM_001278689.2(EOGT):c.1437+11A>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 2132879	NM_001278689.2(EOGT):c.1412A>G (p.Gln471Arg)	EOGT (Q471R +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1386378	NM_001278689.2(EOGT):c.1411C>T (p.Gln471Ter)	EOGT (Q471* +1 more)	Single nucleotide variant (nonsense +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 3089254	NM_001278689.2(EOGT):c.1409G>A (p.Arg470Gln)	EOGT (R470Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2151334	NM_001278689.2(EOGT):c.1408C>T (p.Arg470Trp)	EOGT (R470W +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1054717	NM_001278689.2(EOGT):c.1404G>A (p.Trp468Ter)	EOGT (W384* +1 more)	Single nucleotide variant (nonsense +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2082730	NM_001278689.2(EOGT):c.1396A>G (p.Ile466Val)	EOGT (I382V +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 762735	NM_001278689.2(EOGT):c.1392C>T (p.His464=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 946321	NM_001278689.2(EOGT):c.1387G>A (p.Val463Ile)	EOGT (V463I +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1497657	NM_001278689.2(EOGT):c.1386C>T (p.Gly462=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 741034	NM_001278689.2(EOGT):c.1368C>T (p.Asp456=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 1418697	NM_001278689.2(EOGT):c.1355G>A (p.Arg452His)	EOGT (R452H +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GUncertain significance
Select item 2219442	NM_001278689.2(EOGT):c.1348G>A (p.Asp450Asn)	EOGT (D366N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 523612	NM_001278689.2(EOGT):c.1335-1G>A	EOGT	Single nucleotide variant (splice acceptor variant)	Adams-Oliver syndrome 4	GPathogenic
Select item 1181876	NM_001278689.2(EOGT):c.1335-247del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1251140	NM_001278689.2(EOGT):c.1335-254_1335-250del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1178093	NM_001278689.2(EOGT):c.1334+55_1334+56del	EOGT	Deletion (intron variant)	not provided	GLikely benign
Select item 743326	NM_001278689.2(EOGT):c.1334+8T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 732068	NM_001278689.2(EOGT):c.1305C>T (p.Phe435=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GBenign
Select item 3089253	NM_001278689.2(EOGT):c.1283C>A (p.Ala428Asp)	EOGT (A344D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403402	NM_001278689.2(EOGT):c.1256C>T (p.Thr419Met)	EOGT (T419M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 737098	NM_001278689.2(EOGT):c.1239A>G (p.Leu413=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791245	NM_001278689.2(EOGT):c.1237C>T (p.Leu413=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4 +1 more	GBenign/Likely benign
Select item 1989739	NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)	EOGT (Q328* +1 more)	Single nucleotide variant (nonsense +1 more)	Adams-Oliver syndrome 4	GPathogenic
Select item 2160084	NM_001278689.2(EOGT):c.1215-18T>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1222672	NM_001278689.2(EOGT):c.1215-160G>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240782	NM_001278689.2(EOGT):c.1215-310A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189085	NM_001278689.2(EOGT):c.1214+277T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2048156	NM_001278689.2(EOGT):c.1214+16T>C	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 474283	NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly)	EOGT (R405G +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 732232	NM_001278689.2(EOGT):c.1209G>A (p.Lys403=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 2516966	NM_001278689.2(EOGT):c.1196T>C (p.Ile399Thr)	EOGT (I315T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784012	NM_001278689.2(EOGT):c.1170A>G (p.Lys390=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4 +1 more	GBenign/Likely benign
Select item 2246282	NM_001278689.2(EOGT):c.1160A>G (p.Asn387Ser)	EOGT (N303S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2163235	NM_001278689.2(EOGT):c.1158A>G (p.Val386=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	EOGT-related disorder +1 more	GLikely benign
Select item 765688	NM_001278689.2(EOGT):c.1155T>G (p.Leu385=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1021870	NM_001278689.2(EOGT):c.1153-3C>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2050021	NM_001278689.2(EOGT):c.1153-17T>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1277785	NM_001278689.2(EOGT):c.1153-172C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269621	NM_001278689.2(EOGT):c.1152+59dup	EOGT	Duplication (intron variant)	not provided	GBenign
Select item 1275486	NM_001278689.2(EOGT):c.1152+71del	EOGT	Deletion (intron variant)	not provided	GBenign
Select item 1187218	NM_001278689.2(EOGT):c.1152+70_1152+71del	EOGT	Deletion (intron variant)	not provided	GLikely benign
Select item 1196270	NM_001278689.2(EOGT):c.1152+45T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803937	NM_001278689.2(EOGT):c.1152+10del	EOGT	Deletion (intron variant)	Adams-Oliver syndrome 4	GBenign
Select item 2978848	NM_001278689.2(EOGT):c.1152+4A>G	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GUncertain significance
Select item 2418504	NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	Adams-Oliver syndrome 4	GLikely benign
Select item 55818	NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln)	EOGT (R377Q +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GPathogenic
Select item 1377716	NM_001278689.2(EOGT):c.1129C>T (p.Arg377Trp)	EOGT (R293W +1 more)	Single nucleotide variant (missense variant +1 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 752922	NM_001278689.2(EOGT):c.1128C>T (p.Tyr376=)	EOGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1010701	NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp)	EOGT (R288W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2261114	NM_001278689.2(EOGT):c.1097G>A (p.Arg366Gln)	EOGT (R282Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177680	NM_001278689.2(EOGT):c.1084-8G>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4	GLikely benign
Select item 1170244	NM_001278689.2(EOGT):c.1084-14C>G	EOGT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1168129	NM_001278689.2(EOGT):c.1084-19C>T	EOGT	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 1244410	NM_001278689.2(EOGT):c.1084-43C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297991	NM_001278689.2(EOGT):c.1084-118C>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229062	NM_001278689.2(EOGT):c.1084-294G>A	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276644	NM_001278689.2(EOGT):c.1084-304C>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182650	NM_001278689.2(EOGT):c.1083+245C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231965	NM_001278689.2(EOGT):c.1083+184A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 55817	NM_001278689.2(EOGT):c.1074del (p.Gly359fs)	EOGT (G359fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1273322	NM_001278689.2(EOGT):c.997-30T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215586	NM_001278689.2(EOGT):c.997-51A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229990	NM_001278689.2(EOGT):c.996+24C>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1324332	NM_001278689.2(EOGT):c.912delinsAC (p.Tyr304Ter)	EOGT (Y304*)	Indel (nonsense +2 more)	Adams-Oliver syndrome 4	GUncertain significance
Select item 1255384	NM_001278689.2(EOGT):c.912T>C (p.Tyr304=)	EOGT	Single nucleotide variant (synonymous variant +2 more)	Adams-Oliver syndrome 4 +1 more	GBenign
Select item 3037060	NM_001278689.2(EOGT):c.892G>A (p.Val298Ile)	EOGT (V298I)	Single nucleotide variant (missense variant +2 more)	EOGT-related disorder	GUncertain significance
Select item 1179590	NM_001278689.2(EOGT):c.861C>T (p.Ser287=)	EOGT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1281297	NM_001278689.2(EOGT):c.840C>T (p.Tyr280=)	EOGT	Single nucleotide variant (intron variant +2 more)	not provided	GBenign
Select item 1178407	NM_001278689.2(EOGT):c.832-36T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266056	NM_001278689.2(EOGT):c.832-49T>C	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265129	NM_001278689.2(EOGT):c.832-228A>G	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259174	NM_001278689.2(EOGT):c.831+21C>T	EOGT	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 3